ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2827813345
Gene: EHMT1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001341188.1:p.Pro177Leu
CA5374363
NM_001354259.2:c.530C>T